Canonical Allele Identifier: CA5305659

Gene: ABO

Linked Data

• dbSNP Id: rs566015043
• ExAC: 9:136131109 T / C
• gnomAD v2: 9-136131109-T-C
• gnomAD v3: 9-133255722-T-C
• gnomAD v4: 9-133255722-T-C
• MyVariant Identifiers: chr9:g.136131109T>C (hg19) ; chr9:g.133255722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255722T>C , CM000671.2:g.133255722T>C	GRCh38
NC_000009.11:g.136131109T>C , CM000671.1:g.136131109T>C	GRCh37
NC_000009.10:g.135120930T>C	NCBI36
NG_006669.1:g.21946A>G
NG_006669.2:g.24494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1038A>G
ENST00000647353.1:n.54-4570A>G
ENST00000679909.1:c.28+19440A>G	ENSP00000506089.1:n.28+19440A>G
ENST00000453660.3:n.1020A>G
ENST00000538324.2:c.1006A>G	ENSP00000483018.1:p.Arg336Gly
ENST00000611156.4:c.1006A>G	ENSP00000483265.1:p.Arg336Gly
NM_020469.2:c.1009A>G	NP_065202.2:p.Arg337Gly
NM_020469.3:c.1009A>G	NP_065202.2:p.Arg337Gly